In particular, the study found the responsible gene(s) in 9 of 26 families (20%) in whom targeted testing had previously been inconclusive.

When used as the initial form of genetic testing, whole genome sequencing identified the responsible HCM gene in 5 of 12 families, or 42%.

According to this article in Wired U.K., a whole genome sequencing test costs about $600 and takes just a few weeks to complete. On the other had, the cost of data storage necessary to store such a large amount of collective data is, according to this article, prohibitively high.

If not for everyone, perhaps whole genome sequencing could be used in families where traditional genetic testing has proven inconclusive. Time will tell.

Like this:

What is HCM?

HCM is a very common condition, and may affect as many as 1 in 200 people. However, many do not know that they have the disease and are often undiagnosed or have instead been misdiagnosed with other conditions.

The scariest thing about HCM, and the most sensational, is that HCM can sometimes cause sudden death, and this can occur without obvious symptoms beforehand.

Luckily, recent research has shown that with the right treatment, and thanks to modern medical advances, the scariest and worst scenario is not likely, and that most HCM patients will live normal life spans with few disabilities.